{"@context":{"@vocab":"https://cir.nii.ac.jp/schema/1.0/","rdfs":"http://www.w3.org/2000/01/rdf-schema#","dc":"http://purl.org/dc/elements/1.1/","dcterms":"http://purl.org/dc/terms/","foaf":"http://xmlns.com/foaf/0.1/","prism":"http://prismstandard.org/namespaces/basic/2.0/","cinii":"http://ci.nii.ac.jp/ns/1.0/","datacite":"https://schema.datacite.org/meta/kernel-4/","ndl":"http://ndl.go.jp/dcndl/terms/","jpcoar":"https://github.com/JPCOAR/schema/blob/master/2.0/"},"@id":"https://cir.nii.ac.jp/crid/1390285697599580160.json","@type":"Article","productIdentifier":[{"identifier":{"@type":"DOI","@value":"10.18976/jsht.20.2_79"}},{"identifier":{"@type":"NAID","@value":"130007908483"}},{"identifier":{"@type":"URI","@value":"https://search.jamas.or.jp/link/ui/2021033142"}}],"dc:title":[{"@language":"en","@value":"Japanese Clinical Guidelines 2020 for Diagnosis and Treatment of Juvenile polyposis syndrome in Children and Adults"},{"@language":"ja","@value":"小児・成人のための若年性ポリポーシス症候群診療ガイドライン（2020 年版）"}],"dc:language":"ja","description":[{"type":"abstract","notation":[{"@language":"en","@value":"Juvenile polyposis syndrome (JPS) is a rare disease characterized by multiple hamartomatous polyps within the gastrointestinal tract. It is caused by germline pathogenic variants of the<i> SMAD4</i> or <i>BMPR1A</i>. Approximately 75% of newly diagnosed cases have an autosomal-dominantly inherited condition, whereas 25% are sporadic without previous history of polyposis in the family pedigree. CS/PHTS may be identified by multigene panel testing in patients with cancer.\nJPS is classified into three categories according to phenotypic features of polyp distribution. These include generalized juvenile polyposis, juvenile polyposis coli, and juvenile polyposis of the stomach. Juvenile polyposis of the stomach is caused by germline pathogenic variants of <i>SMAD4</i> with a high risk for the development of gastric cancer. Pathogenic variant of <i>SMAD4</i> is also associated with hereditary hemorrhagic telangiectasia-JPS complex, which needs regular survey for cardiovascular system.\nThe present clinical guidelines explain the principles in the diagnosis and management of JPS, together with three clinical questions and corresponding recommendations. The guidelines have been designed to promote seamless implementation of accurate diagnosis and appropriate management of pediatric, adolescent and adult patients with the disease."},{"@language":"ja","@value":"若年性ポリポーシス症候群は全消化管に過誤腫性ポリープである若年性ポリープが多発する，希少疾患である．<i>SMAD4</i>あるいは<i>BMPR1A</i>遺伝子の生殖細胞系列バリアントが原因として報告されている．約75%は常染色体優性遺伝形式を示すが，約25％は家族歴のない孤発例である．また，がん遺伝子パネル検査によって診断される可能性がある．\nポリープの発生部位により全消化管型，大腸限局型，胃限局型に分けられ，胃限局型では<i>SMAD4</i>の病的バリアントを原因とすることが多く，胃癌のリスクが高い．また，<i>SMAD4</i>の病的バリアントを有する症例では，遺伝性出血性毛細血管拡張症を高率に合併し，心大血管病変の定期検査も考慮する．\n本診療ガイドラインでは，小児から成人にかけてシームレスに，正確な診断と適切な治療・サーベイランスが行われるよう， 基本的事項を解説し，3個のクリニカルクエスチョンと推奨を作成した．"}],"abstractLicenseFlag":"disallow"}],"creator":[{"@id":"https://cir.nii.ac.jp/crid/1410285697599580163","@type":"Researcher","personIdentifier":[{"@type":"NRID","@value":"9000410272764"}],"foaf:name":[{"@language":"en","@value":"Matsumoto Takayuki"},{"@language":"ja","@value":"松本 主之"}],"jpcoar:affiliationName":[{"@language":"en","@value":"Division of Gastroenterology, Department of Medicine, Iwate Medical University"},{"@language":"ja","@value":"岩手医科大学内科学講座消化器内科消化管分野"}]},{"@id":"https://cir.nii.ac.jp/crid/1420564276182565888","@type":"Researcher","personIdentifier":[{"@type":"KAKEN_RESEARCHERS","@value":"20232027"},{"@type":"NRID","@value":"1000020232027"},{"@type":"NRID","@value":"9000392149841"},{"@type":"NRID","@value":"9000347296725"},{"@type":"NRID","@value":"9000283616439"},{"@type":"NRID","@value":"9000253369153"},{"@type":"NRID","@value":"9000410272775"},{"@type":"NRID","@value":"9000241849053"},{"@type":"NRID","@value":"9000242135276"},{"@type":"NRID","@value":"9000391986815"},{"@type":"NRID","@value":"9000337079097"},{"@type":"NRID","@value":"9000399235963"},{"@type":"NRID","@value":"9000000696000"},{"@type":"NRID","@value":"9000257773598"},{"@type":"NRID","@value":"9000329424265"},{"@type":"NRID","@value":"9000391979844"},{"@type":"NRID","@value":"9000327927406"},{"@type":"NRID","@value":"9000379073447"},{"@type":"NRID","@value":"9000255854625"},{"@type":"NRID","@value":"9000002006667"},{"@type":"NRID","@value":"9000258279871"},{"@type":"NRID","@value":"9000411098154"},{"@type":"NRID","@value":"9000258621184"},{"@type":"RESEARCHMAP","@value":"https://researchmap.jp/Masami_Arai"}],"foaf:name":[{"@language":"en","@value":"Arai 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Yasushi"},{"@language":"ja","@value":"佐藤 康史"}],"jpcoar:affiliationName":[{"@language":"en","@value":"Department of Community Medicine for Gastroenterology and Oncology, Tokushima University Graduate School of Biomedical Sciences"},{"@language":"ja","@value":"徳島大学大学院医歯薬学研究部地域消化器・総合内科学"}]},{"@id":"https://cir.nii.ac.jp/crid/1410285697599580168","@type":"Researcher","personIdentifier":[{"@type":"NRID","@value":"9000410272787"}],"foaf:name":[{"@language":"en","@value":"Sekine Shigeki"},{"@language":"ja","@value":"関根 茂樹"}],"jpcoar:affiliationName":[{"@language":"en","@value":"Division of Diagnostic Pathology, National Cancer Center Hospital"},{"@language":"ja","@value":"国立がん研究センター中央病院病理科"}]},{"@id":"https://cir.nii.ac.jp/crid/1410285697599580167","@type":"Researcher","personIdentifier":[{"@type":"NRID","@value":"9000410272788"}],"foaf:name":[{"@language":"en","@value":"Tanaka Shinji"},{"@language":"ja","@value":"田中 信治"}],"jpcoar:affiliationName":[{"@language":"ja","@value":"広島大学病院 内視鏡診療科/IBDセンター，広島大学大学院 医系科学研究科内視鏡医学"},{"@language":"en","@value":"Department of Endoscopy, Hiroshima University Hospital"}]},{"@id":"https://cir.nii.ac.jp/crid/1410285697599580160","@type":"Researcher","personIdentifier":[{"@type":"NRID","@value":"9000410272765"}],"foaf:name":[{"@language":"en","@value":"Tanakaya Kohji"},{"@language":"ja","@value":"田中屋 宏爾"}],"jpcoar:affiliationName":[{"@language":"en","@value":"Department of Surgery, Iwakuni Clinical 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Yasushi"},{"@language":"ja","@value":"岡﨑 康司"}],"jpcoar:affiliationName":[{"@language":"en","@value":"Intractable Disease Research Center, Graduate School of Medicine, Juntendo University"},{"@language":"ja","@value":"順天堂大学大学院医学研究科難治性疾患診断・治療学"}]},{"@id":"https://cir.nii.ac.jp/crid/1410285697599580034","@type":"Researcher","personIdentifier":[{"@type":"NRID","@value":"9000410272774"}],"foaf:name":[{"@language":"en","@value":"Matsuura Nariaki"},{"@language":"ja","@value":"松浦 成昭"}],"jpcoar:affiliationName":[{"@language":"en","@value":"Osaka International Cancer Institute"},{"@language":"ja","@value":"大阪国際がんセンター"}]},{"@id":"https://cir.nii.ac.jp/crid/1410285697599580041","@type":"Researcher","personIdentifier":[{"@type":"NRID","@value":"9000410272777"}],"foaf:name":[{"@language":"en","@value":"Tomita Naohiro"},{"@language":"ja","@value":"冨田 尚裕"}],"jpcoar:affiliationName":[{"@language":"en","@value":"Cancer Treatment Center, Toyonaka Municipal 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